A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538300



Internal ID15505627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18798936..18867669hg38UCSC Ensembl
Innerchr5:18799045..18867778hg19UCSC Ensembl
Innerchr5:18834802..18903535hg18UCSC Ensembl
Innerchr5:18834802..18903535hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3868734
hg1968734
hg1868734
hg1768734
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461999
Supporting Variants
SamplesHGDP00169
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv538300
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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